Incidental Mutation 'IGL02130:Fcnb'
ID 281019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcnb
Ensembl Gene ENSMUSG00000026835
Gene Name ficolin B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02130
Quality Score
Status
Chromosome 2
Chromosomal Location 28076378-28084885 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 28084789 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028179] [ENSMUST00000117486] [ENSMUST00000135472]
AlphaFold O70497
Predicted Effect probably null
Transcript: ENSMUST00000028179
SMART Domains Protein: ENSMUSP00000028179
Gene: ENSMUSG00000026835

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Collagen 39 99 1.1e-11 PFAM
FBG 101 314 1.78e-115 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117486
SMART Domains Protein: ENSMUSP00000112625
Gene: ENSMUSG00000026835

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Collagen 39 99 6.7e-12 PFAM
FBG 101 250 1.33e-41 SMART
Predicted Effect probably null
Transcript: ENSMUST00000135472
SMART Domains Protein: ENSMUSP00000119098
Gene: ENSMUSG00000026835

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Collagen 38 81 5.3e-10 PFAM
internal_repeat_1 86 107 1.19e-5 PROSPERO
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to Streptococcus pneumoniae infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn7l1 A T 12: 33,342,142 K239M probably damaging Het
Cep164 T C 9: 45,779,792 E1230G possibly damaging Het
Fas A G 19: 34,315,295 T101A probably benign Het
Gm14325 A G 2: 177,834,652 probably benign Het
Gm4877 A T 6: 42,520,057 noncoding transcript Het
Heyl T C 4: 123,246,271 S208P probably benign Het
Ighv10-3 A T 12: 114,523,501 L100H probably damaging Het
Irs1 T C 1: 82,289,467 S343G probably damaging Het
Lrriq4 T A 3: 30,650,747 V293E probably damaging Het
Mbd3l1 A T 9: 18,484,727 R49S probably damaging Het
Mdga1 A G 17: 29,857,669 I43T possibly damaging Het
N4bp3 T C 11: 51,643,946 E430G possibly damaging Het
Olfml3 A G 3: 103,736,967 Y129H probably benign Het
Olfr1233 C A 2: 89,339,583 V240F probably damaging Het
Olfr870 A G 9: 20,171,358 I71T probably damaging Het
Prex2 T C 1: 11,112,799 V424A probably damaging Het
Prex2 T A 1: 11,160,162 V804E probably damaging Het
Rnf103 T C 6: 71,509,564 L393S probably damaging Het
Rnf20 T C 4: 49,644,481 probably benign Het
Slc25a16 A G 10: 62,944,358 I299V probably benign Het
Tmprss2 A T 16: 97,590,889 C5S probably damaging Het
Trpv3 A C 11: 73,279,770 M159L probably benign Het
Vmn2r45 A T 7: 8,483,557 M244K possibly damaging Het
Other mutations in Fcnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Fcnb APN 2 28076801 missense probably benign 0.04
IGL02348:Fcnb APN 2 28084830 missense possibly damaging 0.88
IGL02504:Fcnb APN 2 28076594 missense probably damaging 1.00
IGL03118:Fcnb APN 2 28076618 missense probably benign 0.06
IGL03179:Fcnb APN 2 28076634 missense possibly damaging 0.93
R0217:Fcnb UTSW 2 28079677 missense probably benign 0.02
R0899:Fcnb UTSW 2 28076779 missense probably damaging 1.00
R3901:Fcnb UTSW 2 28079196 missense probably damaging 1.00
R5845:Fcnb UTSW 2 28079621 critical splice donor site probably null
R5911:Fcnb UTSW 2 28076689 missense probably damaging 1.00
R6065:Fcnb UTSW 2 28079910 missense probably damaging 1.00
R6188:Fcnb UTSW 2 28079190 missense possibly damaging 0.94
R6488:Fcnb UTSW 2 28078289 missense probably damaging 1.00
R8058:Fcnb UTSW 2 28079695 missense probably damaging 1.00
R8194:Fcnb UTSW 2 28078318 missense possibly damaging 0.65
R8195:Fcnb UTSW 2 28078318 missense possibly damaging 0.65
R8196:Fcnb UTSW 2 28078318 missense possibly damaging 0.65
R8198:Fcnb UTSW 2 28078318 missense possibly damaging 0.65
R8199:Fcnb UTSW 2 28078318 missense possibly damaging 0.65
R8678:Fcnb UTSW 2 28078349 missense possibly damaging 0.61
R9224:Fcnb UTSW 2 28079148 missense probably damaging 1.00
R9261:Fcnb UTSW 2 28079624 missense probably damaging 0.99
X0024:Fcnb UTSW 2 28076691 missense probably damaging 0.99
Posted On 2015-04-16